ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2N by Inherited Neuropathy Consortium Ii, University Of Miami

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.903C>T (p.His301=) rs2070203 0.49332
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_001605.3(AARS1):c.242A>C (p.Lys81Thr) rs786205157 0.00001
NM_015459.5(ATL3):c.1392A>G (p.Ile464Met) rs376091022 0.00001
NM_001605.3(AARS1):c.211A>T (p.Asn71Tyr) rs387906792
NM_001605.3(AARS1):c.2677G>A (p.Asp893Asn) rs786205851
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621

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